Varaico: Literature-Extracted Genetic Variants

SLC4A4

200 papers

RefSeq Summary

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal ...

Pfam Domains

Band_3_cytoaa 106–387UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 441–1007UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 4

HGNC Alias Symbols

NBC1; HNBC1; NBC2; pNBC; hhNMC; kNBC1; KNBC; NBCe1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003759.4

p.N439K

c.1317T>G

Surrounding Variants

2 papers

NM_003759.4

p.N439K

c.1317T>A

2 papers

NM_003759.4

p.N439S

c.1316A>G

1 paper

NM_001098484.3

p.A484T

c.1450G>A

2 papers

NM_003759.4

p.N439D

c.1315A>G

1 paper

NM_001098484.3

p.I485S

c.1454T>G

2 papers

NM_003759.4

p.T436S

c.1307C>G

2 papers

NM_003759.4

p.T436A

c.1306A>G

2 papers

NM_003759.4

p.T436S

c.1306A>T

2 papers

NM_003759.4

p.F443Y

c.1328T>A

1 paper

NM_001098484.3

p.G492V

c.1475G>T

2 papers

NM_003759.4

p.D449N

c.1345G>A

8 papers

NM_003759.4

p.S427L

c.1280C>T